Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal rotation of the kidneys
Always present (100%)HP:0004712
Aortic coarctation
Always present (100%)HP:0001680
Bilateral absence of radius
Always present (100%)HP:0004977
Cataract
Always present (100%)HP:0000518
Cerebellar vermis hypoplasia
Always present (100%)HP:0001320
Corneal opacity
Always present (100%)HP:0007957
Hypoplasia of both radius and ulna
Always present (100%)HP:0005773
Low number of red blood cells or hemoglobin
Always present (100%)HP:0001903
Prolonged bleeding following circumcision
Always present (100%)HP:0030137
Radial deviation of hands
Always present (100%)HP:0009486
Ulnar bowing
Always present (100%)HP:0003031
Ulnar deviation of the hands
Always present (100%)HP:0009487
VUR
Always present (100%)HP:0000076
Haemorrhagic disorders
Very frequent (80-99%)HP:0001928
Radial aplasia
Very frequent (80-99%)HP:0003974
Thrombocytopenia
Very frequent (80-99%)HP:0001873
Thumb hypoplasia
Very frequent (80-99%)HP:0009778
Aplasia/hypoplasia of the humerus
Frequent (30-79%)HP:0006507
Broad thumbs
Frequent (30-79%)HP:0011304
Cow milk allergy
Frequent (30-79%)HP:0100327
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Eosinophilia
Frequent (30-79%)HP:0001880
Genua vara
Frequent (30-79%)HP:0002970
High forehead
Frequent (30-79%)HP:0000348
Hypoplasia or unilateral/bilateral absence of ulna
Frequent (30-79%)HP:0006495
Increased total leukocyte count
Frequent (30-79%)HP:0001974
Increased width of the forehead
Frequent (30-79%)HP:0000337
Patellar aplasia
Frequent (30-79%)HP:0006443
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Related Conditions
Amegakaryocytic thrombocytopenia(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Hereditary thrombocytopenic disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital thrombocytopenia(parent)
Developmental hereditary disorder(parent)
Aplasia of radius(parent)
Quick Facts
- SNOMED CT
- 85589009
- UMLS CUI
- C0175703
- Fully Specified Name
- Radial aplasia-thrombocytopenia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.